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An autopsy proven case of CSF1R-mutant Adult-onset leukoencephalopathy with axonal spheroids and ...
  • 작성일2020-08-07
  • 최종수정일2020-08-07
  • 담당부서연구기획과
  • 연락처043-719-8033
  • 700

Experimental Neurobiology, 2019. 28(1), 119-129, DOI: https://doi.org/10.5607/en.2019.28.1.119


An autopsy proven case of CSF1R-mutant Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) with premature ovarian failure

Seong-Ik Kim, Beomseok Jeon;Jeongmo Bae;Jae Kyung Won;Han-Joon Kim;Jeemin Yim;Yun Joong Kim;Sung-Hye Park


Abstract

    Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disordercaused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to itsrarity and various clinical presentations such as Parkinsonism, pyramidal signs, cognitive impairment and/or psychiatric symptoms.We describe an autopsy case of ALSP with a CSF1R mutation. A 61-year-old woman presented insidious-onset gait difficulty for 12years since her age of 49, and premature ovarian failure since her age of 35. At initial hospital visit, brain magnetic resonance imagingrevealed hydrocephalus. Initially, Parkinson’s syndrome was diagnosed, and she was prescribed L-dopa/carbidopa because of spasticityand rigidity of extremities, which had worsened. Subsequently, severe neuropsychiatric symptoms and cognitive impairmentdeveloped and radiologically, features of leukoencephalopathy or leukodystrophy were detected. She showed a down-hill courseand died, 12 years after initial diagnosis. At autopsy, the brain showed severe symmetric atrophy of bilateral white matter, paper-thincorpus callosum, thin internal capsule, and marked hydrocephalus. Microscopically, diffuse loss of white matter, relatively preservedsubcortical U-fibers, and many eosinophilic bulbous neuroaxonal spheroids were noted, but there was no calcification. Pigmentedglia with brown cytoplasmic pigmentation were readily found in the white matter, which were positive for Periodic acid-Schiff, p62,and CD163 stains, but almost negative for CD68. Whole-exome and Sanger sequencing revealed a CSF1R mutation (c.2539G>A,p.Glu847Lys) which was reported in prior one ALSP case. This example demonstrates that ALSP could be associated with prematureovarian failure.



  • 본 연구는 질병관리본부 연구개발과제연구비를 지원받아 수행되었습니다.
  • This research was supported by a fund by Research of Korea Centers for Disease Control and Prevention.


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